Mutagenetix > Incidental Mutation

Incidental Mutation 'R8842:Cul1'

674470

Institutional Source

Beutler Lab

Gene Symbol

Cul1

Ensembl Gene

ENSMUSG00000029686

Gene Name

cullin 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8842 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47453398-47526139 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 47515076 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 430 (L430Q)

Ref Sequence

ENSEMBL: ENSMUSP00000031697 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031697] [ENSMUST00000146200]

AlphaFold

Q9WTX6

Predicted Effect

probably damaging
Transcript: ENSMUST00000031697
AA Change: L430Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031697
Gene: ENSMUSG00000029686
AA Change: L430Q

Domain	Start	End	E-Value	Type
SCOP:d1ldja2	17	410	1e-174	SMART
CULLIN	447	594	3.69e-81	SMART
low complexity region	638	651	N/A	INTRINSIC
Cullin_Nedd8	703	770	6.19e-34	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000146200
AA Change: L430Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122702
Gene: ENSMUSG00000029686
AA Change: L430Q

Domain	Start	End	E-Value	Type
SCOP:d1ldja2	17	410	1e-176	SMART
CULLIN	447	594	3.69e-81	SMART
low complexity region	638	651	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.1%

Validation Efficiency

100% (50/50)

MGI Phenotype

PHENOTYPE: Homozygotes for targeted null mutations accumulate cyclin E1 and exhibit arrested development and lethality around embryonic day 6.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap17	G	A	7: 123,294,527	P557S	probably benign	Het
Atad5	G	T	11: 80,110,084	D1014Y	possibly damaging	Het
Bmp6	T	A	13: 38,346,383	S151T	probably benign	Het
Bmp6	C	T	13: 38,498,819	Q459*	probably null	Het
Ccdc39	A	G	3: 33,826,463	Y452H	probably damaging	Het
Cenpj	A	G	14: 56,542,872	Y961H	probably damaging	Het
Col6a6	A	T	9: 105,777,967	Y852N	probably damaging	Het
Cpne8	A	G	15: 90,572,015	I156T	probably benign	Het
Dhx30	A	G	9: 110,085,228	S1031P	probably benign	Het
Dhx9	A	T	1: 153,462,589	F774I	possibly damaging	Het
Fezf2	A	C	14: 12,345,079	M36R	probably damaging	Het
Gbp2b	A	T	3: 142,606,815	I320L	probably benign	Het
Gemin6	T	A	17: 80,225,686	V16D	possibly damaging	Het
Gpr158	T	A	2: 21,576,940	V410D	possibly damaging	Het
H2-DMb2	C	T	17: 34,147,930	T112M	probably damaging	Het
Hecw2	T	C	1: 53,950,874	T114A		Het
Herc2	G	T	7: 56,088,311	R234L	probably damaging	Het
Igsf11	A	G	16: 39,008,881	I46V	probably benign	Het
Izumo1r	C	T	9: 14,902,409	G38S	possibly damaging	Het
Katna1	A	G	10: 7,738,836	D36G	probably benign	Het
Kdm1b	G	T	13: 47,078,356	R697L	probably damaging	Het
Kif1b	T	A	4: 149,253,739	I483F	probably damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
Lrp1b	G	A	2: 41,268,405	T1714I		Het
Man2a2	A	G	7: 80,353,319	L1014P	probably damaging	Het
Marf1	T	C	16: 14,117,305	E1533G	probably damaging	Het
Mfsd2a	A	T	4: 122,951,830	I176N	probably damaging	Het
Mterf1b	T	A	5: 4,196,961	F201I	possibly damaging	Het
Neurod2	T	C	11: 98,327,681	E219G	probably damaging	Het
Nln	T	C	13: 104,072,978	E29G	probably benign	Het
Obscn	G	A	11: 59,002,035	T6795M	possibly damaging	Het
Olfr1223	C	T	2: 89,144,730	V98I	probably benign	Het
Olfr1357	A	G	10: 78,611,801	V280A	possibly damaging	Het
Olfr351	C	A	2: 36,859,527	A274S	probably benign	Het
Olfr376	G	T	11: 73,375,360	V207F	probably benign	Het
Otog	A	T	7: 46,246,524	I138F	probably damaging	Het
Pdcd2l	G	A	7: 34,184,767	Q337*	probably null	Het
Ptprk	A	T	10: 28,566,501	N859I	probably damaging	Het
Pygl	G	T	12: 70,227,594		probably benign	Het
Sema4d	C	T	13: 51,708,982	A447T	probably benign	Het
Slc27a6	A	T	18: 58,579,816	S237C	probably benign	Het
Smarcc1	G	A	9: 110,222,131	M1006I	possibly damaging	Het
Sult2a2	G	T	7: 13,738,267	G130C	probably damaging	Het
Trpm7	T	A	2: 126,821,211	H1039L	probably benign	Het
Wdr64	T	G	1: 175,772,327	N573K	probably benign	Het
Zbtb48	T	C	4: 152,020,039	I611V	probably benign	Het
Zer1	T	C	2: 30,111,050	S120G	possibly damaging	Het
Zswim4	C	T	8: 84,214,070	R800Q	probably damaging	Het

Other mutations in Cul1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01087:Cul1	APN	6	47509044	missense	probably benign
IGL02410:Cul1	APN	6	47485014	missense	probably damaging	1.00
IGL02458:Cul1	APN	6	47525608	missense	possibly damaging	0.91
IGL02490:Cul1	APN	6	47514886	missense	probably damaging	0.98
IGL03065:Cul1	APN	6	47495081	missense	probably damaging	1.00
IGL03387:Cul1	APN	6	47501209	missense	probably damaging	0.96
IGL02837:Cul1	UTSW	6	47523205	missense	probably benign	0.01
R0064:Cul1	UTSW	6	47502415	splice site	probably benign
R0064:Cul1	UTSW	6	47502415	splice site	probably benign
R0436:Cul1	UTSW	6	47523773	missense	probably benign	0.16
R0746:Cul1	UTSW	6	47518288	splice site	probably null
R1103:Cul1	UTSW	6	47517177	missense	probably benign	0.03
R1471:Cul1	UTSW	6	47514886	missense	probably damaging	0.98
R1746:Cul1	UTSW	6	47508245	missense	probably damaging	0.98
R1852:Cul1	UTSW	6	47520830	missense	probably damaging	0.99
R1858:Cul1	UTSW	6	47525524	splice site	probably null
R1937:Cul1	UTSW	6	47508355	missense	probably benign	0.19
R1964:Cul1	UTSW	6	47502571	missense	probably damaging	0.98
R2985:Cul1	UTSW	6	47502507	missense	probably damaging	1.00
R4452:Cul1	UTSW	6	47508989	nonsense	probably null
R4653:Cul1	UTSW	6	47484963	missense	probably damaging	1.00
R4860:Cul1	UTSW	6	47517146	missense	probably benign	0.38
R4860:Cul1	UTSW	6	47517191	missense	probably damaging	0.99
R4860:Cul1	UTSW	6	47517146	missense	probably benign	0.38
R4860:Cul1	UTSW	6	47517191	missense	probably damaging	0.99
R5141:Cul1	UTSW	6	47520839	missense	probably benign	0.04
R5328:Cul1	UTSW	6	47508317	missense	probably damaging	0.99
R5399:Cul1	UTSW	6	47485084	splice site	probably null
R5593:Cul1	UTSW	6	47485086	nonsense	probably null
R5593:Cul1	UTSW	6	47514991	missense	probably damaging	0.99
R5616:Cul1	UTSW	6	47523788	missense	probably damaging	1.00
R5855:Cul1	UTSW	6	47523213	missense	probably benign	0.00
R6382:Cul1	UTSW	6	47502439	missense	probably damaging	1.00
R6670:Cul1	UTSW	6	47517134	missense	probably damaging	1.00
R6964:Cul1	UTSW	6	47516509	missense	probably benign	0.01
R8146:Cul1	UTSW	6	47495093	missense	possibly damaging	0.50
R8373:Cul1	UTSW	6	47515063	missense	possibly damaging	0.78
R8899:Cul1	UTSW	6	47497312	missense	possibly damaging	0.84
R9093:Cul1	UTSW	6	47518239	missense	probably damaging	1.00
R9352:Cul1	UTSW	6	47502492	missense	probably benign	0.00
RF001:Cul1	UTSW	6	47524581	missense	possibly damaging	0.50
RF055:Cul1	UTSW	6	47517133	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCGTAGCTGCTCTTGATAAGG -3'
(R):5'- AGCTACACAACAGCTCTGTC -3'

Sequencing Primer
(F):5'- GGTAAGTATGTCACTGAGATGCC -3'
(R):5'- ACAGCTCTGTCAAATGTAGACC -3'

Posted On

2021-07-15